Dihydrofolate Reductase Gene Intronic 19-bp Deletion Polymorphisms in a Japanese Population
Dihydrofolate Reductase Gene Intronic 19-bp Deletion Polymorphisms in a Japanese Population
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DOI：
10.2133/dmpk.dmpk-10-sc-036
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发表时间：
2010-01-01
影响因子：
2.1
通讯作者：
Itoh, Kunihiko
中科院分区：
文献类型：
--
作者：
Hayashi, Hideki;Horino, Masato;Itoh, Kunihiko
二氢叶酸还原酶基因（DHFR）19-bp缺失多态性导致不同的DHFR酶活性，影响早产、脊柱裂、DHFR 19-bp多态性的种族差异可能是导致先前遗传学研究结果不一致的原因。我们比较了同一种族的东亚人DHFR内含子19-bp缺失多态性的基因型和等位基因频率（来自日本）和其他方法对277名健康日本人进行了聚合酶链反应分析。基因型分布如下：野生型/野生型，11.9%（n = 33），野生型/缺失型。40 1%（n = 111），缺失/缺失，48 0%（n = 133）。野生型和缺失型等位基因频率分别为0.32和0.68。日本人群的基因型分布和等位基因频率与以前报道的其他种族人群的基因型分布和等位基因频率有显着差异。DHFR内含子19-bp缺失多态性的测定可能有助于监测MTX治疗日本人群中类风湿性关节炎和儿童急性白血病等疾病的疗效和副作用，因为缺失等位基因的频率较高。
Dihydrofolate reductase gene (DHFR) 19-bp deletion polymorphisms result in varied DHFR enzymatic activity affecting the risk for preterm delivery, spina bifida, and the efficacy of methotrexate (MTX) Ethnic differences in DHFR 19-bp polymorphisms may be responsible for the divergent findings in previous genetic studies We compared genotype and allele frequency of DHFR intronic 19-bp deletion polymorphisms in ethnically homogenous East Asians (from Japan) and others by polymerase chain reaction assay conducted on 277 healthy Japanese individuals The genotype distribution was as follows wild/wild, 11 9% (n = 33), wild/deletion. 40 1% (n = 111), deletion/deletion, 48 0% (n = 133). The frequencies of wild type and deletion alleles were 0 32 and 0 68, respectively The obtained genotype distribution was consistent with those calculated by Hardy-Weinberg equilibrium. The genotype distribution and allele frequencies in the Japanese population were significantly different from those previously reported for other ethnic populations Determination of intronic 19-bp deletion polymorphisms of DHFR may be useful for monitoring the efficacy and side effects of MTX for the treatment of diseases such as rheumatoid arthritis and childhood acute leukemia in the Japanese population because the frequency of the deletion allele is higher.